potassium voltage-gated channel subfamily Q member 2
Dernière mise à jour 18 Aug 2020
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La KCNQ2 gene belongs to a large family of genes that provide instructions for making potassium channels. These channels, which transport positively charged atoms (ions) of potassium into and out of cells, play a key role in a cell's ability to generate and transmit electrical signals.
Normal function
La KCNQ2 gene belongs to a large family of genes that provide instructions for making potassium channels. These channels, which transport positively charged atoms (ions) of potassium into and out of cells, play a key role in a cell's ability to generate and transmit electrical signals.
The specific function of a potassium channel depends on its protein components and its location in the body. Channels made with the KCNQ2 protein are active in nerve cells (neurons) in the brain, where they transport potassium ions out of cells. These channels transmit a particular type of electrical signal called the M-current, which prevents the neuron from continuing to send signals to other neurons. The M-current ensures that the neuron is not constantly active, or excitable.
Potassium channels are made up of several protein components (subunits). Each channel contains four alpha subunits that form the hole (pore) through which potassium ions move. Four alpha subunits from the KCNQ2 gene can form a channel. However, the KCNQ2 alpha subunits can also interact with alpha subunits produced from the KCNQ3 gene to form a functional potassium channel, and these channels transmit a much stronger M-current.
Conditions referring to this gene or chromosome
Other names
BFNC
BFNS1
EBN
EBN1
EIEE7
ENB1
HNSPC
KCNA11
KCNQ2_HUMAN
KQT-like 2
KV7.2
KVEBN1
potassium channel, voltage gated KQT-like subfamily Q, member 2
potassium voltage-gated channel subfamily KQT member 2
potassium voltage-gated channel, KQT-like subfamily, member 2
voltage-gated potassium channel subunit Kv7.2
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Lectures complémentaires et références
- potassium voltage-gated channel subfamily Q member 2; MedlinePlus, National Library of Medicine.
- Biervert C, Schroeder BC, Kubisch C, Berkovic SF, Propping P, Jentsch TJ, Steinlein OK. A potassium channel mutation in neonatal human epilepsy. Science. 1998 Jan 16;279(5349):403-6. doi: 10.1126/science.279.5349.403.
- Castaldo P, del Giudice EM, Coppola G, Pascotto A, Annunziato L, Taglialatela M. Benign familial neonatal convulsions caused by altered gating of KCNQ2/KCNQ3 potassium channels. J Neurosci. 2002 Jan 15;22(2):RC199. doi: 10.1523/JNEUROSCI.22-02-j0003.2002.
- Chung HJ, Jan YN, Jan LY. Polarized axonal surface expression of neuronal KCNQ channels is mediated by multiple signals in the KCNQ2 and KCNQ3 C-terminal domains. Proc Natl Acad Sci U S A. 2006 Jun 6;103(23):8870-5. doi: 10.1073/pnas.0603376103. Epub 2006 May 30.
- Lerche H, Biervert C, Alekov AK, Schleithoff L, Lindner M, Klinger W, Bretschneider F, Mitrovic N, Jurkat-Rott K, Bode H, Lehmann-Horn F, Steinlein OK. A reduced K+ current due to a novel mutation in KCNQ2 causes neonatal convulsions. Ann Neurol. 1999 Sep;46(3):305-12. doi: 10.1002/1531-8249(199909)46:33.0.co;2-5.
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- Saitsu H, Kato M, Koide A, Goto T, Fujita T, Nishiyama K, Tsurusaki Y, Doi H, Miyake N, Hayasaka K, Matsumoto N. Whole exome sequencing identifies KCNQ2 mutations in Ohtahara syndrome. Ann Neurol. 2012 Aug;72(2):298-300. doi: 10.1002/ana.23620. No abstract available.
- Schroeder BC, Kubisch C, Stein V, Jentsch TJ. Moderate loss of function of cyclic-AMP-modulated KCNQ2/KCNQ3 K+ channels causes epilepsy. Nature. 1998 Dec 17;396(6712):687-90. doi: 10.1038/25367.
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- Wang HS, Pan Z, Shi W, Brown BS, Wymore RS, Cohen IS, Dixon JE, McKinnon D. KCNQ2 and KCNQ3 potassium channel subunits: molecular correlates of the M-channel. Science. 1998 Dec 4;282(5395):1890-3. doi: 10.1126/science.282.5395.1890.
- Weckhuysen S, Mandelstam S, Suls A, Audenaert D, Deconinck T, Claes LR, Deprez L, Smets K, Hristova D, Yordanova I, Jordanova A, Ceulemans B, Jansen A, Hasaerts D, Roelens F, Lagae L, Yendle S, Stanley T, Heron SE, Mulley JC, Berkovic SF, Scheffer IE, de Jonghe P. KCNQ2 encephalopathy: emerging phenotype of a neonatal epileptic encephalopathy. Ann Neurol. 2012 Jan;71(1):15-25. doi: 10.1002/ana.22644.
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